Results 1 to 10 of about 322,863 (346)

Whole exome sequencing in the rat [PDF]

BMC Genomics, 2018
Background The rat genome was sequenced in 2004 with the aim to improve human health altered by disease and environmental influences through gene discovery and animal model validation.
Julie F. Foley, Dhiral P. Phadke, Owen Hardy, Sara Hardy, Victor Miller, Anup Madan, Kellie Howard, Kimberly Kruse, Cara Lord, Sreenivasa Ramaiahgari, Gregory G. Solomon, Ruchir R. Shah, Arun R. Pandiri, Ronald A. Herbert, Robert C. Sills, B. Alex Merrick   +15 more
doaj   +3 more sources

Whole-exome sequencing study of hypospadias

iScience, 2023
Summary: Hypospadias results from the impaired urethral development, which is influenced by androgens, but its genetic etiology is still unknown. Through whole exome sequencing analysis, we identified NR5A1, SRD5A2, and AR as mutational hotspots in the ...
Zhongzhong Chen, Yunping Lei, Richard H. Finnell, Yu Ding, Zhixi Su, Yaping Wang, Hua Xie, Fang Chen   +7 more
doaj   +4 more sources

Whole Exome Sequencing in Atrial Fibrillation.

PLoS Genetics, 2016
Atrial fibrillation (AF) is a morbid and heritable arrhythmia. Over 35 genes have been reported to underlie AF, most of which were described in small candidate gene association studies. Replication remains lacking for most, and therefore the contribution
Steven A Lubitz, Jennifer A Brody, Nathan A Bihlmeyer, Carolina Roselli, Lu-Chen Weng, Ingrid E Christophersen, Alvaro Alonso, Eric Boerwinkle, Richard A Gibbs, Joshua C Bis, NHLBI GO Exome Sequencing Project, L Adrienne Cupples, Peter J Mohler, Deborah A Nickerson, Donna Muzny, Marco V Perez, Bruce M Psaty, Elsayed Z Soliman, Nona Sotoodehnia, Kathryn L Lunetta, Emelia J Benjamin, Susan R Heckbert, Dan E Arking, Patrick T Ellinor, Honghuang Lin   +24 more
doaj   +5 more sources

Whole-Exome Sequencing in Familial Parkinson Disease [PDF]

JAMA Neurology, 2016
IMPORTANCE: Parkinson disease (PD) is a progressive neurodegenerative disease for which susceptibility is linked to genetic and environmental risk factors.
Boerwinkle, Eric, Bowling, Kevin, Coban-Akdemir, Zeynep H., Doheny, Kimberly, Farlow, Janice L., Foroud, Tatiana, Gambin, Tomasz, Gibbs, Richard A., Gu, Shen, Hetrick, Kurt, Jain, Preti, Jankovic, Joseph, Jhangiani, Shalini, Kaw, Kaveeta, Lai, Dongbing, Lin, Hai, Ling, Hua, Liu, Yunlong, Lupski, James R., Muzny, Donna, Myers, Richard M., Porter, Paula, Pugh, Elizabeth, Robak, Laurie A., Shulman, Joshua M., White, Janson   +25 more
core   +4 more sources

Whole-exome sequencing in pediatric patients with glomerulonephritis [PDF]

Frontiers in Genetics
IntroductionHigh-throughput sequencing methods revealed disease-causing and susceptibility genes underlying glomerulonephritis (GN). Genetic disorders mimicking GN may be diagnosed in this way. The aim of this study was to perform whole-exome sequencing (
Marina Peric, Marija Brankovic, Natasa Stajic, Jovana Putnik, Jovana Putnik, Aleksandra Paripovic, Aleksandra Paripovic, Milena Jankovic, Dejan Nikolic, Dejan Nikolic, Filip Milanovic, Filip Milanovic, Ivana Novakovic, Ivana Novakovic, Vladislav Vukomanovic, Vladislav Vukomanovic   +15 more
doaj   +2 more sources

Apert's syndrome: Study by whole exome sequencing

Genes and Diseases, 2018
In the present study we attempted a parent–child trio, whole exome sequencing (WES) approach to study Apert's syndrome. Clinical characteristics of the child were noted down and WES was carried out using Ion Torrent System that revealed the presence of ...
Anjana Munshi, Preeti Khetarpal, Satrupa Das, Venkateshwar Rao, Monica Valecha, Manita Bansal, Roshan Kumar   +6 more
doaj   +4 more sources

Whole exome sequencing [PDF]

, 2014
Bou De Pieri, Francesc, Universitat Autònoma de Barcelona. Facultat de Biociències   +1 more
core   +2 more sources

The Application of Whole−Exome Sequencing in Patients With FUO

Frontiers in Cellular and Infection Microbiology, 2022
BackgroundFever of unknown origin (FUO) is still a challenge for clinicians. Next-generation sequencing technologies, such as whole exome sequencing (WES), can be used to identify genetic defects in patients and assist in diagnosis.
Wanru Guo, Xuewen Feng, Ming Hu, Yanwan Shangguan, Jiafeng Xia, Wenjuan Hu, Xiaomeng Li, Zunjing Zhang, Yunzhen Shi, Kaijin Xu   +9 more
doaj   +1 more source

Whole-exome sequencing of oral epithelial dysplasia samples reveals an association with new genes [PDF]

Brazilian Oral Research, 2023
The genetic basis of oral epithelial (OED) is unknown, and there is no reliable method for evaluating the risk of malignant transformation. Somatic mutations are responsible for the transformation of dysplastic mucosa to invasive cancer.
Daniela ADORNO-FARIAS, Jean Nunes dos SANTOS, Wilfredo GONZÁLEZ-ARRIAGADA, Sandra TARQUINIO, Rodrigo Alberto SANTIBÁÑEZ PALOMINOS, Alberto Jesus MARTÍN MARTÍN, Ricardo FERNANDEZ-RAMIRES   +6 more
doaj   +1 more source

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders

Frontiers in Genetics, 2020
Background: Both whole exome sequencing and copy number variants sequencing were applied to identify the genetic cause of rare pediatric disorders.
Xuyun Hu, Xuyun Hu, Xuyun Hu, Ruolan Guo, Ruolan Guo, Ruolan Guo, Jun Guo, Jun Guo, Jun Guo, Zhan Qi, Zhan Qi, Zhan Qi, Wei Li, Wei Li, Wei Li, Chanjuan Hao, Chanjuan Hao, Chanjuan Hao   +17 more
doaj   +1 more source